{"Name":"Radial deficiency-tibial hypoplasia syndrome","DiseaseID__c":"GARD:0018716","id":18716,"encodedName":"radial-deficiency-tibial-hypoplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Radial deficiency-tibial hypoplasia syndrome","Xref_IDs__c":"C5190823; MEDGEN:1682367; MONDO:0015232; ORPHA:1121","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:1121","Disease_Description__c":"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.","GARD_Name__c":"Radial deficiency-tibial hypoplasia syndrome","GARD_Synonym__c":"radial deficiency, tibial hypoplasia syndrome","Curated_Disease_Description_Source__c":"ORPHA:1121","Curated_Disease_Description__c":"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:1121","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015232","ORPHANET_ID__c":"ORPHA:1121","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aplasia radial-aplasia tibial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de aplasia radial-aplasia tibial","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated.","Curated_Disease_Description_Source__c":"ORPHA:1121","GARD_Synonym__c":"radial deficiency, tibial hypoplasia syndrome","Name":"Radial deficiency-tibial hypoplasia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1121"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1121","Source__c":"C5190823; MONDO:0015232; ORPHA:1121","Xref__c":"ORPHA:1121"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1682367","Source__c":"C5190823","Xref__c":"MEDGEN:1682367"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190823","Source__c":"C5190823","Xref__c":"C5190823"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783137003","Source__c":"C5190823","Xref__c":"783137003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015232","Source__c":"GARD:0018716","Xref__c":"MONDO:0015232"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["radial deficiency, tibial hypoplasia syndrome"]}